Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients

To identify Bestrophin 1 (BEST1) causative mutations in six Lebanese patients from three families, of whom four had a presumed clinical diagnosis of autosomal recessive bestrophinopathy (ARB) and two showed a phenotype with a single vitelliform lesion, patients were subjected to standard ophthalmic...

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Detalles Bibliográficos
Autores principales: Jaffal, Lama, Joumaa, Wissam H., Assi, Alexandre, Helou, Charles, Condroyer, Christel, El Dor, Maya, Cherfan, Georges, Zeitz, Christina, Audo, Isabelle, Zibara, Kazem, El Shamieh, Said
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409913/
https://www.ncbi.nlm.nih.gov/pubmed/30781664
http://dx.doi.org/10.3390/genes10020151

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